title: A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
abstract: We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal predominance and associated atrophy in two members of the family. Genetic testing revealed a novel mutation c.2342C>T (p.A781V) in the CSF1R gene in two brothers of the family. This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene.
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Institute of Neurology, Queen Square, London, UK.
authors.forename: Rebekah
authors.initials: R
authors.lastname: Ahmed
authors.forename: Rita
authors.initials: R
authors.lastname: Guerreiro
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Rohrer
authors.forename: Gamze
authors.initials: G
authors.lastname: Guven
authors.forename: Martin N
authors.initials: MN
authors.lastname: Rossor
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Nick C
authors.initials: NC
authors.lastname: Fox
mesh_terms: D000368:Aged; D000409:Alanine / Q000235:genetics*; D005192:Family Health; D005260:Female; D019788:Fluorodeoxyglucose F18; D005820:Genetic Testing; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D049268:Positron-Emission Tomography; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*; D014633:Valine / Q000235:genetics*
chemical_list: D019788:Fluorodeoxyglucose F18; D016186:Receptor, Macrophage Colony-Stimulating Factor; D014633:Valine; D000409:Alanine
keywords: Behavioural change; CSF1R; Dementia; Frontal dementia; HDLS; Leucoencephalopathy